The biosynthesis of hemoglobin G San Josè (beta 7(A4) Glu replaced by Gly).
This report is concerned with the evaluation of hematological parameters and the percentage level of the abnormal hemoglobin (Hb) G San Josè as found in 4 heterozygous carriers from a family of Sicilian origin. Biosynthetic studies and in vitro recombination experiments strongly indicate that abnormal beta chains are synthesized at lower rate than beta A chains and exhibit a minor affinity (relative to beta A chains) for complementary chains in a condition of relative aA chain deficiency. The possibility that the low affinity of beta G chains for a chains may play a decisive role in controlling the level of the abnormal Hb in the peripheral blood of the present non-a-thalassemic abnormal Hb carriers is therefore discussed.
D000328:Adult; D006580:Genetic Carrier Screening; D005973:Glutamine / Q000097:blood; D005998:Glycine / Q000097:blood; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000096:biosynthesis*; D006801:Humans; D008297:Male; D010375:Pedigree; D010455:Peptides / Q000097:blood; D012802:Sicily
D006455:Hemoglobins, Abnormal; D010455:Peptides; D005973:Glutamine; C032126:hemoglobin G San Jose; D005998:Glycine